PubMed for id: 1697699207

Year	Number of Results
1989	1
1991	1
1992	2
2007	1
2012	1
2023	2
2024	3

1

Pathogenic gating pore current conducted by autism-related mutations in the Na_V1.2 brain sodium channel.

Eltokhi A, Lundstrom BN, Li J, Zweifel LS, Catterall WA, Gamal El-Din TM. Eltokhi A, et al. Proc Natl Acad Sci U S A. 2024 Apr 9;121(15):e2317769121. doi: 10.1073/pnas.2317769121. Epub 2024 Apr 2. Proc Natl Acad Sci U S A. 2024. PMID: 38564633

2

Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.

Mao M, Mattei C, Rollo B, Byars S, Cuddy C, Berecki G, Heighway J, Pachernegg S, Menheniott T, Apted D, Jia L, Dalby K, Nemiroff A, Mullen S, Reid CA, Maljevic S, Petrou S. Mao M, et al. J Neurosci. 2024 Feb 21;44(8):e0692232023. doi: 10.1523/JNEUROSCI.0692-23.2023. J Neurosci. 2024. PMID: 38148154

3

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767

4

Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.

Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL. Thompson CH, et al. J Gen Physiol. 2023 Oct 2;155(10):e202313375. doi: 10.1085/jgp.202313375. Epub 2023 Aug 14. J Gen Physiol. 2023. PMID: 37578743 Free PMC article.

5

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Sanders SJ, et al. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945. Nature. 2012. PMID: 22495306 Free PMC article.

6

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.

Martin MS, Tang B, Ta N, Escayg A. Martin MS, et al. Genomics. 2007 Aug;90(2):225-35. doi: 10.1016/j.ygeno.2007.04.006. Epub 2007 Jun 4. Genomics. 2007. PMID: 17544618 Free PMC article.

7

Localization of a human brain sodium channel gene (SCN2A) to chromosome 2.

Litt M, Luty J, Kwak M, Allen L, Magenis RE, Mandel G. Litt M, et al. Genomics. 1989 Aug;5(2):204-8. doi: 10.1016/0888-7543(89)90047-5. Genomics. 1989. PMID: 2571571

8

Direct amplification of a single dissected chromosomal segment by polymerase chain reaction: a human brain sodium channel gene is on chromosome 2q22-q23.

Han JA, Lu CM, Brown GB, Rado TA. Han JA, et al. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):335-9. doi: 10.1073/pnas.88.2.335. Proc Natl Acad Sci U S A. 1991. PMID: 1846440 Free PMC article.

9

Primary structure, chromosomal localization, and functional expression of a voltage-gated sodium channel from human brain.

Ahmed CM, Ware DH, Lee SC, Patten CD, Ferrer-Montiel AV, Schinder AF, McPherson JD, Wagner-McPherson CB, Wasmuth JJ, Evans GA, et al. Ahmed CM, et al. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8220-4. doi: 10.1073/pnas.89.17.8220. Proc Natl Acad Sci U S A. 1992. PMID: 1325650 Free PMC article.

10

Differential expression of two sodium channel subtypes in human brain.

Lu CM, Han J, Rado TA, Brown GB. Lu CM, et al. FEBS Lett. 1992 May 25;303(1):53-8. doi: 10.1016/0014-5793(92)80476-w. FEBS Lett. 1992. PMID: 1317301 Free article.

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